TPRKB

Chr 2p13.1

TP53RK binding protein

Aliases:: CGI-121, CGI121
MANE:: ENST00000272424.11

OMIM: 608680 ↗NCBI: 51002 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TPRKB · Q9Y3C4

v62025-08-01

Predicted Aligned Error matrix for TPRKB — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

95.5/ 100

Very high

175 residues

Confidence breakdown

Very high(≥ 90)91%
Confident(70–90)9%
Low(50–70)1%
Very low(< 50)0%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Galloway-Mowat syndrome
0.67
neurodegenerative disease
0.53
thyroiditis
0.25
nephrotic syndrome
0.11
macrovascular complications of diabetes
0.06
vascular disorder
0.06
hepatocellular carcinoma
0.05
placenta praevia
0.05
smoking cessation
0.04
substance-related disorder
0.04

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

EKC/KEOPS complex subunit TPRKB

Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine (PubMed:22912744, PubMed:28805828). The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37 (PubMed:22912744, PubMed:28805828). TPRKB acts as an allosteric effector that regulates the t(6)A activity of the complex. TPRKB is not required for tRNA modification (PubMed:22912744, PubMed:28805828)